{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124644",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 143,
          "referenceAllele": "A",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004829",
      "geneNCBI_id": 3045,
      "geneSymbol": "HBD",
      "hgvs": [
        "NP_000510.1:p.Ala143Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124643",
          "hgvs": "NM_000519.4:c.428C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147054"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30086[alleleid]",
        "alleleId": 30086,
        "preferredName": "NM_000519.3(HBD):c.428C>A (p.Ala143Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15047",
        "RCV": [
          "RCV000016192"
        ],
        "variationId": 15047
      }
    ]
  },
  "type": "amino-acid"
}